A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7301



Internal ID15189877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:5470460..5509582hg38UCSC Ensembl
Outerchr17:5373780..5412902hg19UCSC Ensembl
Outerchr17:5314504..5353626hg18UCSC Ensembl
Outerchr17:5314504..5353626hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3839123
hg1939123
hg1839123
hg1739123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1956
Supporting Variants
SamplesNA12156
Known GenesDERL2, LOC728392, MIS12, NLRP1
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv7301
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer